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Representation of symptoms
average data

If you are a parent or caregivers of an RS patient who has tested positive for a mutation in MECP2, and would like to contribute to this database, please contact Monica Coenraads or Brian Hendrich  for information about completing a questionnaire. Alternatively download questionnaire here (Adobe pdf file), fill it, save the file and e-mail it. We would love to hear from you!

Plot of average symptoms against mutation place                                                                      Average symptom score table

 

 


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Representation of average symptom severity
 

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Average symptom score table
 

 


Average data

0 = not affected         1 = mildly affected      2 = severely affected

AA BC NP AE AS AM BI CO DH ED GF GR IA LP MR NV PN PC RH SC SE SI SF TG TR ā
Q16X C46T 1 1 1 0 0 1 1 1 0 1 2 1 0 2 0 0 2 0 0 0 1 0 1 0.68
34F/S 100∆4 1 0 2 2 0 2 2 2
86F/S 258∆2 1 0 2 2 2 2 2
L100V C298G 2 1.5 0.5 0 1 0 0.5 0 0.5 1.5 0.5 0.75 1 1 0.5 0 1.25 0 1 0.75 1 0.75 0 0.68
W104R T310C 1 2 1 2 1 1 2 1 1 1 2 2 2 0 2 2 2 2 0 2 2 2 1.52
R106W C316T 6 1.25 1 1.5 1.2 1.6 1.67 1 0.6 1.2 0.6 1.6 0.4 2 1.83 1.2 1.83 0 0.5 0.8 1.2 1.4 1.2 1.16
116F/S 345∆1 1 2 2 2 2
125F/S A378-2G 2 2 1 2 1 0 1.5 0 0 0 2 0 2 1 1 1 2 0 0 0 1 0 1 0.84
Q128X C382T 1 1 1 2 1 1 1 1 0 0 1 1 0 2 1 1 2 1 0 0 2 1 1 0.95
R133C C397T 12 1.11 0.89 0.42 0.89 0.44 0.5 0.44 0.5 0.67 1.11 1.18 0.78 1.25 0.33 0.56 1.92 0.22 0.92 0.33 0.33 0.56 0.67 0.73
S143C C401G 2 1 1 1.5 2 0 1 1 0 0 1 1 1 2 1 1 2 0 1.5 2 0 1 1 1
A140V C419T 6 0 0.83 0.33 0 1.33 0.5 0 2 0 2 0 0.83
Y141X C423G 2 1 1 1.5 1 1 2 0 0 0 0 1.5 1 2 0 1 2 2 1.5 0 2 1 0 0.98
151F/S 451∆1 1 0 2 2 2 0 2 2
P152R C455G 5 1 0.5 0.6 0.5 0.75 1.4 0.5 0.5 0.25 0.5 1 1 2 0 0.75 1.8 0.5 1.2 0.25 1 1.5 1 0.84
F155C T464G 1 0 0 2 0 1 0 1 0 0 0 2 0 2 0 1 2 0 0 2 2 0 1 0.73
D156E C468G 1 0 2 2 2 2 2 2
T158A A472G 1 0 1 0 1 2 1 1 1 1 2 2 0 1 2 1 2 1 1 1 1 1.1
T158M C473T 15 1.25 0.89 0.6 0.78 0.89 1.14 0.89 0.89 0.56 0.56 1.69 0.56 1.93 0.2 0.44 1.8 0.33 0.93 0.22 0.44 1.22 0.67 0.86
G161R G481A 1 2 0 0 2 0 2 1 0 1 2 0 2 1 2 1 2 1 0 0 0 2 1 1
R168X C502T 10 0.83 0.71 1.2 0.43 0.29 1.67 0.57 0.43 0.43 0.57 1 0.29 1.4 0.6 0.29 1.6 0.29 0.5 0.43 0.86 1.29 0.71 0.74
R168X/R294X C502T/C880T 1 0 1 0 0 1 1 0 0 0 1 0 1 2 0 1 0 0 0 1 1 0 0.48
K177X A529T 1 2 0 2 1 2 2 2 2 0 2 2 2 2 2 2 0 1 2 0 2 1 1 1.45
T197M C590T 1 2 0 0 2 0 2 1 0 1 2 0 2 1 2 1 2 1 0 0 0 2 1 1
P225R C674G 1 2 0 2 2 2 2 2
228F/S 682ins1 1 0 2 2 2 2 2 0 2 0 2 2 2 0 2 2 2 2 0 2 1 0 1.38
235F/S 704ins8 1 2 0 1 1 2 2 1 2 0 2 0 2 0 0 1 2 1 1 0 0 2 0 1
Q244X C730T 1 0 0 0 1 0 1 0 1 1 1 1 0 2 0 0 1 0 0 1 1 0 1 0.55
R255X C763T 17 0.86 1.22 1.31 1.11 1.22 1.57 1.11 0.67 1.44 0.78 1.86 1 1.88 0.82 1.11 1.76 1 0.79 0.22 1.44 1.44 1.22 1.18
Q262X C784T 1 0 0 0 2 2 1 1 0 0 2 0 2 0 0 1 2 0 0 0 2 1 2 0.82
K266X A796T 1 2 2 1 1 1 1 1 2 0 1 1 1 2 1 1 2 1 1 2 1 2 2 1.32
266F/S 796∆1 1 1 0 2 2 1 1 0 1 0 2 0 2 1 0 1 2 0 0 0 1 1 0 0.68
R270X C808T 11 1.25 0.75 1 0.75 0.75 1.73 1.5 1.5 1 1.5 1.88 1.5 1.64 0.27 0 2 0.5 1.45 0 0.75 0.75 0.75 1.06
285F/S 855∆4 1 1 1 1 1 1 1 1 0 2 2 1 1 2 0 1 1 2 1 2 1 0 1 1.09
R294X C880T 6 0.5 1 0.67 0.75 0.5 1 0.75 0.25 1 0.5 1.4 0.5 2 0.83 0.25 2 0.25 1 0 1 1 0 0.78
∆295-396 881∆289,∆8 1 0 2 2 2 2 2 2
299F/S 895∆202 1 2 2 2 2 2 2 0
P302A C904G 1 2 2 0 2 2 0
K304Q A910C 1 0 0 0 2 1 1 1 0 1 1 2 2 2 0 1 2 1 0 1 1 2 0 0.95
R306C C916T 11 1.22 0.89 0.64 1.33 0.67 0.82 0.56 0.22 0.67 0.56 1.5 1.22 1.91 0.55 1 1.82 0.38 1 0.56 1.11 1.22 0.89 0.94
E318A A953C 1 1 1 0 0 0 0 1 0 1 0 0 1 0 1 0 1 0 0 0 0 1 0 0.36
P322L C965T 1 0 2 2 2 2 2
322F/S 966insA 1 0 1 0 1 2 1 1 0 1 1 1 1 1 1 0 1 0 1 0 1 1 0 0.73
332F/S 996ins2 1 0 0 2 2
∆361-362/393F/S 1161∆6/1180
∆26		 1 0 1 1 2 0 0 1 0 1 2 0 2 1 0 1 2 0 0 0 0 2 1 0.77
374F/S 1151∆41 1 1 1 1 1 1 0 1 0 1 2 0 2 0 1 0 2 0 0 1 1 1 1 0.82
376F/S 1124∆53 2 0 2 0 1 2 2 1 2 1
385F/S 1157∆41 5 1.75 0.75 0.6 1 1 1 0.5 0.5 0.5 1.5 1.75 1 1.8 0.4 1 1.8 0.5 1 0.75 0.75 1 1.5 1.02
387F/S 1163∆35 1 2 2 2 2 2 2
387F/S 1163∆44 1 1 0 1 2 1 0 1 0 0 2 1 1 1 0 1 1 1 2 1 0 1 2 0.91
397F/S 1189insA 1 0 2 2 2 2 2 2
441F/S 1324∆44 1 1 2 2 2 2 1 1 1 2 2 2 2 2 0 1 2 2 2 0 2 1 2 1.55
454F/S 1364ins1 1 0 2 2 2 2 2
X487W A1461G 1 2 1 2 1 0 2 2 1 1 0 2 1 2 0 0 2 0 2 0 1 2 0 1.09

 

 

Amino Acid Change AA
Base Change BC
Number of Patients NP
Abnormal EEG AE
Abnormal sleep patterns AS
Ambulatory AM
Breathing irregularities BI
Constipation CO
Decelerating head circum DH
Eating difficulties ED
GI Reflux GF
Growth retardation GR
Irritability/agitation IA
Loss of purposeful hand motions LP
Muscle rigidity/spasticity MR
Non verbal NV
Period of normal development PN
Poor circulation PC
Repetitive hand motions RH
Scoliosis SC
Seizures SE
Self injurious behaviours SI
Small feet SF
Teeth grinding TG
Tremors TR
Average ā

 

 

 

 

 

 

 

 

 

 

 

 

 

 

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